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Select item 14915873971.

rs1491587397 has merged into rs1241473482 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 4:94223762 (GRCh38)
4:95144913 (GRCh37)
Canonical SPDI:: NC_000004.12:94223760:AAA:A,NC_000004.12:94223760:AAA:AA,NC_000004.12:94223760:AAA:AAAA
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.0616/26 (NorthernSweden)
HGVS:: NC_000004.12:g.94223762_94223763del, NC_000004.12:g.94223763del, NC_000004.12:g.94223763dup, NC_000004.11:g.95144913_95144914del, NC_000004.11:g.95144914del, NC_000004.11:g.95144914dup, NG_031945.1:g.21155_21156del, NG_031945.1:g.21156del, NG_031945.1:g.21156dup

Select item 14915798342.

rs1491579834 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:94223760 (GRCh38)
4:95144911 (GRCh37)
Canonical SPDI:: NC_000004.12:94223759:TA:
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.0007/37 (GnomAD)
HGVS:: NC_000004.12:g.94223760_94223761del, NC_000004.11:g.95144911_95144912del, NG_031945.1:g.21153_21154del

Select item 14915537383.

rs1491553738 has merged into rs60198579 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:94226520 (GRCh38)
4:95147671 (GRCh37)
Canonical SPDI:: NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94226507:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.4036/2021 (1000Genomes)
HGVS:: NC_000004.12:g.94226520_94226528del, NC_000004.12:g.94226521_94226528del, NC_000004.12:g.94226522_94226528del, NC_000004.12:g.94226523_94226528del, NC_000004.12:g.94226524_94226528del, NC_000004.12:g.94226525_94226528del, NC_000004.12:g.94226526_94226528del, NC_000004.12:g.94226527_94226528del, NC_000004.12:g.94226528del, NC_000004.12:g.94226528dup, NC_000004.12:g.94226527_94226528dup, NC_000004.12:g.94226526_94226528dup, NC_000004.12:g.94226525_94226528dup, NC_000004.12:g.94226519_94226528dup, NC_000004.12:g.94226511_94226528dup, NC_000004.12:g.94226528_94226529insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95147671_95147679del, NC_000004.11:g.95147672_95147679del, NC_000004.11:g.95147673_95147679del, NC_000004.11:g.95147674_95147679del, NC_000004.11:g.95147675_95147679del, NC_000004.11:g.95147676_95147679del, NC_000004.11:g.95147677_95147679del, NC_000004.11:g.95147678_95147679del, NC_000004.11:g.95147679del, NC_000004.11:g.95147679dup, NC_000004.11:g.95147678_95147679dup, NC_000004.11:g.95147677_95147679dup, NC_000004.11:g.95147676_95147679dup, NC_000004.11:g.95147670_95147679dup, NC_000004.11:g.95147662_95147679dup, NC_000004.11:g.95147679_95147680insTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.23913_23921del, NG_031945.1:g.23914_23921del, NG_031945.1:g.23915_23921del, NG_031945.1:g.23916_23921del, NG_031945.1:g.23917_23921del, NG_031945.1:g.23918_23921del, NG_031945.1:g.23919_23921del, NG_031945.1:g.23920_23921del, NG_031945.1:g.23921del, NG_031945.1:g.23921dup, NG_031945.1:g.23920_23921dup, NG_031945.1:g.23919_23921dup, NG_031945.1:g.23918_23921dup, NG_031945.1:g.23912_23921dup, NG_031945.1:g.23904_23921dup, NG_031945.1:g.23921_23922insTTTTTTTTTTTTTTTTTTTTTT

Select item 14912697584.

rs1491269758 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:94226507 (GRCh38)
4:95147658 (GRCh37)
Canonical SPDI:: NC_000004.12:94226506:AT:
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00087/72 (GnomAD)
HGVS:: NC_000004.12:g.94226507_94226508del, NC_000004.11:g.95147658_95147659del, NG_031945.1:g.23900_23901del

Select item 14911282865.

rs1491128286 has merged into rs535710589 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:94275805 (GRCh38)
4:95196956 (GRCh37)
Canonical SPDI:: NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94275796:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMARCAD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.05811/1622 (TOMMO)
TTTTTTT=0.45/18 (GENOME_DK)
HGVS:: NC_000004.12:g.94275805_94275814del, NC_000004.12:g.94275807_94275814del, NC_000004.12:g.94275810_94275814del, NC_000004.12:g.94275811_94275814del, NC_000004.12:g.94275812_94275814del, NC_000004.12:g.94275813_94275814del, NC_000004.12:g.94275814del, NC_000004.12:g.94275814dup, NC_000004.12:g.94275813_94275814dup, NC_000004.12:g.94275812_94275814dup, NC_000004.12:g.94275811_94275814dup, NC_000004.12:g.94275810_94275814dup, NC_000004.12:g.94275809_94275814dup, NC_000004.12:g.94275808_94275814dup, NC_000004.12:g.94275807_94275814dup, NC_000004.12:g.94275806_94275814dup, NC_000004.12:g.94275805_94275814dup, NC_000004.12:g.94275804_94275814dup, NC_000004.12:g.94275803_94275814dup, NC_000004.12:g.94275802_94275814dup, NC_000004.12:g.94275801_94275814dup, NC_000004.12:g.94275800_94275814dup, NC_000004.12:g.94275799_94275814dup, NC_000004.12:g.94275798_94275814dup, NC_000004.12:g.94275797_94275814dup, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.94275814_94275815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196956_95196965del, NC_000004.11:g.95196958_95196965del, NC_000004.11:g.95196961_95196965del, NC_000004.11:g.95196962_95196965del, NC_000004.11:g.95196963_95196965del, NC_000004.11:g.95196964_95196965del, NC_000004.11:g.95196965del, NC_000004.11:g.95196965dup, NC_000004.11:g.95196964_95196965dup, NC_000004.11:g.95196963_95196965dup, NC_000004.11:g.95196962_95196965dup, NC_000004.11:g.95196961_95196965dup, NC_000004.11:g.95196960_95196965dup, NC_000004.11:g.95196959_95196965dup, NC_000004.11:g.95196958_95196965dup, NC_000004.11:g.95196957_95196965dup, NC_000004.11:g.95196956_95196965dup, NC_000004.11:g.95196955_95196965dup, NC_000004.11:g.95196954_95196965dup, NC_000004.11:g.95196953_95196965dup, NC_000004.11:g.95196952_95196965dup, NC_000004.11:g.95196951_95196965dup, NC_000004.11:g.95196950_95196965dup, NC_000004.11:g.95196949_95196965dup, NC_000004.11:g.95196948_95196965dup, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95196965_95196966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73198_73207del, NG_031945.1:g.73200_73207del, NG_031945.1:g.73203_73207del, NG_031945.1:g.73204_73207del, NG_031945.1:g.73205_73207del, NG_031945.1:g.73206_73207del, NG_031945.1:g.73207del, NG_031945.1:g.73207dup, NG_031945.1:g.73206_73207dup, NG_031945.1:g.73205_73207dup, NG_031945.1:g.73204_73207dup, NG_031945.1:g.73203_73207dup, NG_031945.1:g.73202_73207dup, NG_031945.1:g.73201_73207dup, NG_031945.1:g.73200_73207dup, NG_031945.1:g.73199_73207dup, NG_031945.1:g.73198_73207dup, NG_031945.1:g.73197_73207dup, NG_031945.1:g.73196_73207dup, NG_031945.1:g.73195_73207dup, NG_031945.1:g.73194_73207dup, NG_031945.1:g.73193_73207dup, NG_031945.1:g.73192_73207dup, NG_031945.1:g.73191_73207dup, NG_031945.1:g.73190_73207dup, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031945.1:g.73207_73208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910999276.

rs1491099927 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:94262889 (GRCh38)
4:95184040 (GRCh37)
Canonical SPDI:: NC_000004.12:94262888:TA:
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.94262889_94262890del, NC_000004.11:g.95184040_95184041del, NG_031945.1:g.60282_60283del

Select item 14909840367.

rs1490984036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:94268611 (GRCh38)
4:95189762 (GRCh37)
Canonical SPDI:: NC_000004.12:94268610:A:G
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.94268611A>G, NC_000004.11:g.95189762A>G, NG_031945.1:g.66004A>G

Select item 14909616028.

rs1490961602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 4:94282598 (GRCh38)
4:95203749 (GRCh37)
Canonical SPDI:: NC_000004.12:94282597:A:C,NC_000004.12:94282597:A:T
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94282598A>C, NC_000004.12:g.94282598A>T, NC_000004.11:g.95203749A>C, NC_000004.11:g.95203749A>T, NG_031945.1:g.79991A>C, NG_031945.1:g.79991A>T

Select item 14909536309.

rs1490953630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:94267705 (GRCh38)
4:95188856 (GRCh37)
Canonical SPDI:: NC_000004.12:94267704:T:C
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000814/14 (TOMMO)
HGVS:: NC_000004.12:g.94267705T>C, NC_000004.11:g.95188856T>C, NG_031945.1:g.65098T>C, XR_007057944.1:n.2793T>C

Select item 149094635710.

rs1490946357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:94233703 (GRCh38)
4:95154854 (GRCh37)
Canonical SPDI:: NC_000004.12:94233702:G:A,NC_000004.12:94233702:G:T
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.94233703G>A, NC_000004.12:g.94233703G>T, NC_000004.11:g.95154854G>A, NC_000004.11:g.95154854G>T, NG_031945.1:g.31096G>A, NG_031945.1:g.31096G>T

Select item 149091762311.

rs1490917623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:94230670 (GRCh38)
4:95151821 (GRCh37)
Canonical SPDI:: NC_000004.12:94230669:T:C
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94230670T>C, NC_000004.11:g.95151821T>C, NG_031945.1:g.28063T>C

Select item 149090673512.

rs1490906735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:94283650 (GRCh38)
4:95204801 (GRCh37)
Canonical SPDI:: NC_000004.12:94283649:C:A
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.94283650C>A, NC_000004.11:g.95204801C>A, NG_031945.1:g.81043C>A

Select item 149084912613.

rs1490849126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:94215994 (GRCh38)
4:95137145 (GRCh37)
Canonical SPDI:: NC_000004.12:94215993:G:T
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.94215994G>T, NC_000004.11:g.95137145G>T, NG_031945.1:g.13387G>T

Select item 149075778814.

rs1490757788 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:94275649 (GRCh38)
4:95196800 (GRCh37)
Canonical SPDI:: NC_000004.12:94275648:TTTT:TTT
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94275652del, NC_000004.11:g.95196803del, NG_031945.1:g.73045del

Select item 149074132415.

rs1490741324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:94210298 (GRCh38)
4:95131449 (GRCh37)
Canonical SPDI:: NC_000004.12:94210297:T:A
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.94210298T>A, NC_000004.11:g.95131449T>A, NG_031945.1:g.7691T>A

Select item 149073237216.

rs1490732372 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:94276299 (GRCh38)
4:95197450 (GRCh37)
Canonical SPDI:: NC_000004.12:94276298:AAA:AA
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.94276301del, NC_000004.11:g.95197452del, NG_031945.1:g.73694del

Select item 149072613117.

rs1490726131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:94209299 (GRCh38)
4:95130450 (GRCh37)
Canonical SPDI:: NC_000004.12:94209298:C:A
Gene:: SMARCAD1 (Varview), SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.94209299C>A, NC_000004.11:g.95130450C>A, NG_031945.1:g.6692C>A

Select item 149071608118.

rs1490716081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:94252684 (GRCh38)
4:95173835 (GRCh37)
Canonical SPDI:: NC_000004.12:94252683:C:T
Gene:: SMARCAD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.94252684C>T, NC_000004.11:g.95173835C>T, NG_031945.1:g.50077C>T, NM_020159.5:c.958C>T, NM_020159.4:c.958C>T, NM_001128429.3:c.958C>T, NM_001128429.2:c.958C>T, NR_045644.2:n.1284C>T, NR_045644.1:n.1284C>T, NM_001128430.2:c.958C>T, NM_001128430.1:c.958C>T, NR_164737.1:n.1303C>T, NR_164727.1:n.1210C>T, NR_164732.1:n.1364C>T, NR_164730.1:n.1213C>T, NR_164729.1:n.1135C>T, NR_164724.1:n.1225C>T, NR_164728.1:n.1213C>T, NR_164723.1:n.1213C>T, NR_164731.1:n.1210C>T, NR_164733.1:n.1213C>T, NR_164726.1:n.1034C>T, NR_164734.1:n.1135C>T, NR_164722.1:n.1135C>T, NM_001375857.1:c.955C>T, NR_164736.1:n.1162C>T, NM_001375855.1:c.958C>T, NM_001375858.1:c.958C>T, NR_164725.1:n.1135C>T, NM_001375856.1:c.958C>T, NR_164735.1:n.1034C>T, XM_024454154.2:c.958C>T, XM_024454154.1:c.958C>T, XM_047415987.1:c.118C>T, XR_007057944.1:n.1135C>T, XR_007057945.1:n.1213C>T, XR_007057943.1:n.1135C>T, XR_007057946.1:n.1106C>T, NP_064544.2:p.Pro320Ser, NP_001121901.1:p.Pro320Ser, NP_001121902.1:p.Pro320Ser, NP_001362786.1:p.Pro319Ser, NP_001362784.1:p.Pro320Ser, NP_001362787.1:p.Pro320Ser, NP_001362785.1:p.Pro320Ser, XP_024309922.1:p.Pro320Ser, XP_047271943.1:p.Pro40Ser

Select item 149070299819.

rs1490702998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:94260568 (GRCh38)
4:95181719 (GRCh37)
Canonical SPDI:: NC_000004.12:94260567:C:T
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94260568C>T, NC_000004.11:g.95181719C>T, NG_031945.1:g.57961C>T

Select item 149062166720.

rs1490621667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:94268168 (GRCh38)
4:95189319 (GRCh37)
Canonical SPDI:: NC_000004.12:94268167:C:G
Gene:: SMARCAD1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.94268168C>G, NC_000004.11:g.95189319C>G, NG_031945.1:g.65561C>G, XR_007057944.1:n.3256C>G

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